Publications
239 results found
Chambers JC, Ireland H, Lane D, et al., 2000, The C677T methylenetetrahydrofolate reductase mutation does not explain elevated plasma homocysteine concentrations in UK Indian Asians, Heart, Vol: 83, ISSN: 1355-6037
Background: Coronary heart disease (CHD) mortality is higher in UK Indian Asians (IA) than European whites (EW). Plasma homocysteine concentrations are elevated in IA compared to EW, and may contribute to excess CHD risk in the former. We have investigated the extent to which the methylenetetrahydrofolate reductase (MTHFR) C677T mutation accounts for elevated plasma homocysteine, and increased CHD risk, in IA, compared to EW. Methods: We investigated 454 male CHD cases (myocardial infarction or angiographically proven CHD, 224 IA; 230 EW) and 805 healthy male controls (3811A, 424 EW). Fasting homocysteine concentrations, MTHFR C677T genotype, and conventional CHD risk factors were measured. Results: Fasting homocysteine concentrations were higher in IA than EW controls, and in CHD cases compared to controls in both racial groups. However, the frequency of the 677T MTHFR allele was lower in IA, than EW (15.0% vs 32.7%, P<0.001). Elevated homocysteine concentrations were not associated with 677T MTHFR genotype in IA, unlike EW. TT MTHFR genotype was not a risk factor for CHD in IA (odds ratio 0.4, 95% Cl: 0.1-1.5). Conclusions: The 677T MTHFR allele does not determine plasma homocysteine concentrations in IA. In fact the prevalence of the 677T MTHFR mutation in IA is less than half that in EW, even though homocysteine concentrations are elevated in the former. Our results suggest that other genetic defects and/or environmental influences affecting homocysteine metabolism, may have a more important role in IA.
Lane DA, Grant PJ, 2000, Role of hemostatic gene polymorphisms in venous and arterial thrombotic disease, BLOOD, Vol: 95, Pages: 1517-1532, ISSN: 0006-4971
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- Citations: 411
Al-Obaidi MK, Philippou H, Stubbs PJ, et al., 2000, Relationships between homocysteine, Factor VIIa, and thrombin generation in acute coronary syndromes, CIRCULATION, Vol: 101, Pages: 372-377, ISSN: 0009-7322
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- Citations: 82
Kunz G, Ireland HA, Stubbs PJ, et al., 2000, Identification and characterization of a thrombomodulin gene mutation coding for an elongated protein with reduced expression in a kindred with myocardial infarction, BLOOD, Vol: 95, Pages: 569-576, ISSN: 0006-4971
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- Citations: 44
Simmonds RE, Lane DA, 1999, Structural and functional implications of the intron exon organization of the human endothelial cell protein C activated protein C receptor (EPCR) gene:: Comparison with the structure of CD1/major histocompatibility complex α1 and α2 domains, BLOOD, Vol: 94, Pages: 632-641, ISSN: 0006-4971
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- Citations: 84
Bayston TA, Tripodi A, Mannucci PM, et al., 1999, Familial overexpression of β antithrombin caused by an Asn135Thr substitution, BLOOD, Vol: 93, Pages: 4242-4247, ISSN: 0006-4971
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- Citations: 15
Philippou H, Davidson SJ, Mole MT, et al., 1999, Two-chain factor VIIa generated in the pericardium during surgery with cardiopulmonary bypass - Relationship to increased thrombin generation and heparin concentration, ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY, Vol: 19, Pages: 248-254, ISSN: 1079-5642
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- Citations: 27
Fitches AC, Appleby R, Lane DA, et al., 1998, Impaired cotranslational processing as a mechanism for type I antithrombin deficiency, BLOOD, Vol: 92, Pages: 4671-4676, ISSN: 0006-4971
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- Citations: 18
Doggen CJM, Kunz G, Rosendaal FR, et al., 1998, A mutation in the thrombomodulin gene, <SUP>127</SUP>G to a coding for Ala25Thr, and the risk of myocardial infarction in men, THROMBOSIS AND HAEMOSTASIS, Vol: 80, Pages: 743-748, ISSN: 0340-6245
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- Citations: 80
Simmonds RE, Ireland H, Lane DA, et al., 1998, Clarification of the risk for venous thrombosis associated with hereditary protein S deficiency by investigation of a large kindred with a characterized gene defect, ANNALS OF INTERNAL MEDICINE, Vol: 128, Pages: 8-+, ISSN: 0003-4819
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- Citations: 78
Nevard CHF, Jurd KM, Lane DA, et al., 1997, Activation of coagulation and fibrinolysis in childhood diarrhoea-associated haemolytic uraemic syndrome, THROMBOSIS AND HAEMOSTASIS, Vol: 78, Pages: 1450-1455, ISSN: 0340-6245
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- Citations: 49
Ireland H, Kunz G, Kyriakoulis K, et al., 1997, Thrombomodulin gene mutations associated with myocardial infarction, CIRCULATION, Vol: 96, Pages: 15-18, ISSN: 0009-7322
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- Citations: 120
vanBoven HH, Lane DA, 1997, Antithrombin and its inherited deficiency states, SEMINARS IN HEMATOLOGY, Vol: 34, Pages: 188-204, ISSN: 0037-1963
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- Citations: 99
Bayston TA, Lane DA, 1997, Antithrombin: Molecular basis of deficiency, THROMBOSIS AND HAEMOSTASIS, Vol: 78, Pages: 339-343, ISSN: 0340-6245
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- Citations: 51
Simmonds RE, Zoller B, Ireland H, et al., 1997, Genetic and phenotypic analysis of a large (122-member) protein S-deficient kindred provides an explanation for the familial coexistence of type I and type III plasma phenotypes, BLOOD, Vol: 89, Pages: 4364-4370, ISSN: 0006-4971
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- Citations: 78
Lowe GDO, Rumley A, Woodward M, et al., 1997, Epidemiology of coagulation factors, inhibitors and activation markers: The Third Glasgow MONICA Survey .1. Illustrative reference ranges by age, sex and hormone use, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 97, Pages: 775-784, ISSN: 0007-1048
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- Citations: 217
Gandrille S, Borgel D, Ireland H, et al., 1997, Protein S deficiency: A database of mutations - For the Plasma Coagulation Inhibitors Subcommittee of the Scientific and Standardization Committee of the International Society on Thrombosis and Haemostasis, THROMBOSIS AND HAEMOSTASIS, Vol: 77, Pages: 1201-1214, ISSN: 0340-6245
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- Citations: 78
Woodward M, Lowe GDO, Rumley A, et al., 1997, Epidemiology of coagulation factors, inhibitors and activation markers: The Third Glasgow MONICA Survey .2. Relationships to cardiovascular risk factors and prevalent cardiovascular disease, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 97, Pages: 785-797, ISSN: 0007-1048
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- Citations: 142
Mukherjee M, Scully MF, Kakkar VV, et al., 1997, Decrease in factor VII coagulant activity during percutaneous transluminal coronary angioplasty by heparin-mediated lipolytic action, THROMBOSIS AND HAEMOSTASIS, Vol: 77, Pages: 675-678, ISSN: 0340-6245
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- Citations: 9
Philippou H, Adami A, Amersey RA, et al., 1997, A novel specific immunoassay for plasma two-chain factor VIIa: Investigation of FVIIa levels in normal individuals and in patients with acute coronary syndromes, BLOOD, Vol: 89, Pages: 767-775, ISSN: 0006-4971
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- Citations: 39
Lane DA, Bayston T, Olds RJ, et al., 1997, Antithrombin mutation database: 2nd (1997) update - For the plasma coagulation inhibitors subcommittee of the scientific and standardization committee of the international society on thrombosis and haemostasis, THROMBOSIS AND HAEMOSTASIS, Vol: 77, Pages: 197-211, ISSN: 0340-6245
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- Citations: 214
Simmonds RE, Ireland H, Kunz G, et al., 1996, Identification of 19 protein S gene mutations in patients with phenotypic protein S deficiency and thrombosis, BLOOD, Vol: 88, Pages: 4195-4204, ISSN: 0006-4971
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- Citations: 32
Ireland H, Thompson E, Lane DA, 1996, Gene mutations in 21 unrelated cases of phenotypic heterozygous protein C deficiency and thrombosis. Protein C Study Group., Thromb Haemost, Vol: 76, Pages: 867-873, ISSN: 0340-6245
Mutations have been identified in the protein C gene in 21 patients with venous thromboembolism and phenotypic heterozygous protein C deficiency. In 20 probands, single mutations were the only abnormalities identified by sequencing all coding regions, intron exon boundaries and the promoter region back to -1540. In one proband 2 mutations were identified and in another family 2 mutations were identified (but not both in the proband). Of the 23 mutations, 18 resulted in predicted amino acid substitutions, 3 were mutations resulting in stop codons, one was a mutation within a consensus splice sequence and another a 9 base pair insertion within exon 5 (this region within exon 5 is proposed as a deletion/insertion hot spot). A novel polymorphism was also, uniquely, identified in the propeptide region of the molecule (Pro-21Pro; CCT to CCC) in a kindred from Hong Kong. Cosegregation of the protein C gene mutation with protein C deficiency could be determined in 13 families. In a further family, phenotypic protein C deficiency and the genetic mutation cosegregated in only 4/5 members. The first thrombotic incident occurred in the probands between the ages of 11 and 59 years and 12 individuals suffered recurrent thrombosis. Thrombosis occurred in at least one other family member in 9/21 families, but in 2 of these it was inconsistently associated with protein C deficiency. An independent genetic risk factor, factor V Arg506Gln (FV Leiden) was identified in 2 probands (and 3 family members) and in 4 protein C deficient members of a third family but not in the proband. The results suggest that in the majority of probands with thrombosis and phenotypic protein C deficiency, a single protein C gene mutation is associated with thrombosis. However, it is also possible that additional unknown genetic risk factors contribute to the thrombotic risk. An added, acquired, risk factor leads to thrombosis at an early age (< 25 years).
Lane DA, Mannucci PM, Bauer KA, et al., 1996, Inherited thrombophilia .2., THROMBOSIS AND HAEMOSTASIS, Vol: 76, Pages: 824-834, ISSN: 0340-6245
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- Citations: 271
Lane DA, Mannucci PM, Bauer KA, et al., 1996, Inherited thrombophilia .1., THROMBOSIS AND HAEMOSTASIS, Vol: 76, Pages: 651-662, ISSN: 0340-6245
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- Citations: 532
Lane DA, Auberger K, Ireland H, et al., 1996, Prenatal diagnosis in combined antithrombin and factor V gene mutation, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 94, Pages: 753-755, ISSN: 0007-1048
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- Citations: 8
Philippou H, Adami A, Lane DA, et al., 1996, High purity factor IX and prothrombin complex concentrate (PCC): Pharmacokinetics and evidence that factor IXa is the thrombogenic trigger in PCC, THROMBOSIS AND HAEMOSTASIS, Vol: 76, Pages: 23-28, ISSN: 0340-6245
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- Citations: 40
Lane DA, Kunz G, Olds RJ, et al., 1996, Molecular genetics of antithrombin deficiency, BLOOD REVIEWS, Vol: 10, Pages: 59-74, ISSN: 0268-960X
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- Citations: 57
Rintelen C, Mannhalter C, Ireland H, et al., 1996, Oral contraceptives enhance the risk of clinical manifestation of venous thrombosis at a young age in females homozygous for factor V Leiden, BRITISH JOURNAL OF HAEMATOLOGY, Vol: 93, Pages: 487-490, ISSN: 0007-1048
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- Citations: 67
vanBoven HH, Reitsma PH, Rosendaal FR, et al., 1996, Factor V Leiden (FV R506Q) in families with inherited antithrombin deficiency, THROMBOSIS AND HAEMOSTASIS, Vol: 75, Pages: 417-421, ISSN: 0340-6245
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- Citations: 210
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